Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL23R
Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 4 Jan 2024, 10:26 a.m. | Last Modified: 4 Jan 2024, 10:26 a.m.
Panel Version: 4.137
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inherited susceptibility to mycobacterial diseases, MONDO:0019146; chronic mucocutaneous candidiasis, MONDO:0015279
Publications
Novel study 36763636 reported 6 cases from 4 families with biallelic variants in IL23R and functional studies.Created: 13 Mar 2023, 6:54 a.m. | Last Modified: 13 Mar 2023, 6:54 a.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mendelian susceptibility to mycobacterial disease (MSMD); chronic mucocutaneous candidiasis (CMC)
Publications
Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)Created: 22 Apr 2020, 12:27 p.m. | Last Modified: 22 Apr 2020, 12:27 p.m.
Panel Version: 2.115
Single family reported.
Sources: Expert listCreated: 16 Apr 2020, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to mycobacteria and Salmonella
Publications
Gene: il23r has been classified as Amber List (Moderate Evidence).
Gene: il23r has been classified as Red List (Low Evidence).
Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to inherited susceptibility to mycobacterial diseases, MONDO:0019146; chronic mucocutaneous candidiasis, MONDO:0015279
Publications for gene: IL23R were set to 30578351; 31953710
Tag Q4_23_promote_green tag was added to gene: IL23R.
Gene: il23r has been classified as Red List (Low Evidence).
Publications for gene: IL23R were set to 30578351
gene: IL23R was added gene: IL23R was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL23R were set to 30578351 Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL23R was set to RED